Canonical Allele Identifier: CA579075198

Gene: KCNH2

Linked Data

• dbSNP Id: rs1290418039
• gnomAD v2: 7-150644690-A-T
• gnomAD v4: 7-150947602-A-T
• MyVariant Identifiers: chr7:g.150644690A>T (hg19) ; chr7:g.150947602A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947602A>T , CM000669.2:g.150947602A>T	GRCh38
NC_000007.13:g.150644690A>T , CM000669.1:g.150644690A>T	GRCh37
NC_000007.12:g.150275623A>T	NCBI36
NG_008916.1:g.35325T>A , LRG_288:g.35325T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798+4T>A
ENST00000262186.10:c.2965+4T>A MANE Select	ENSP00000262186.5:n.2965+4T>A
ENST00000330883.9:c.1945+4T>A	ENSP00000328531.4:n.1945+4T>A
ENST00000262186.9:c.2965+4T>A	ENSP00000262186.5:n.2965+4T>A
ENST00000330883.8:c.1945+4T>A	ENSP00000328531.4:n.1945+4T>A
NM_000238.3:c.2965+4T>A , LRG_288t1:c.2965+4T>A	NP_000229.1:n.2965+4T>A
NM_172057.2:c.1945+4T>A , LRG_288t3:c.1945+4T>A	NP_742054.1:n.1945+4T>A
XM_011516185.1:c.2665+4T>A	XP_011514487.1:n.2665+4T>A
XM_011516186.1:c.*45+4T>A	XP_011514488.1:n.*45+4T>A
XM_011516185.2:c.2665+4T>A	XP_011514487.1:n.2665+4T>A
XM_011516186.3:c.*45+4T>A	XP_011514488.1:n.*45+4T>A
XM_017012195.1:c.2815+4T>A	XP_016867684.1:n.2815+4T>A
XM_017012196.1:c.2788+4T>A	XP_016867685.1:n.2788+4T>A
NM_000238.4:c.2965+4T>A MANE Select	NP_000229.1:n.2965+4T>A
NM_172057.3:c.1945+4T>A	NP_742054.1:n.1945+4T>A